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Charcot-Marie-Tooth Disease

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Charcot-Marie-Tooth Disease is not the name you expected.

Disorder Subdivisions

None

General Discussion

Charcot-Marie-Tooth (CMT) disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy, as well as sensory loss. These manifestations occur first in the distal legs and later in the hands. The nerve cells in individuals with this disorder are not able to send electrical signals properly because of abnormalities in the nerve axon or abnormalities in the insulation (myelin) around the axon. Specific gene mutations are responsible for the abnormal function of the peripheral nerves. CMT disease can be inherited in an autosomal dominant, autosomal recessive or X-linked mode of inheritance.

Supporting Organizations

Center for Peripheral Neuropathy

University of Chicago

5841 South Maryland Ave, MC 2030

Chicago, IL 60637

Tel: (773)702-5659

Fax: (773)702-5577

Website: http://peripheralneuropathycenter.uchicago.edu/

Charcot-Marie-Tooth Association

PO Box 105

Glenolden, PA 19036

Tel: (610)499-9264

Fax: (610)499-9267

Tel: (800)606-2682

Email: info@charcot-marie-tooth.org

Website: http://www.charcot-marie-tooth.org

Child Neurology Foundation

201 Chicago Ave, #200

Minneapolis, MN 55415

USA

Tel: (952)641-6100

Fax: (952)881-6276

Tel: (877)263-5430

Email: jstone@childneurologyfoundation.org

Website: http://www.childneurologyfoundation.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Hereditary Neuropathy Foundation, Inc.

432 Park Avenue South, 4th Floor

New York, NY 10128

Tel: (212)722-8396

Tel: (855)435-7268

Email: info@hnf-cure.org

Website: http://www.hnf-cure.org

Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144

Email: info@letthemhear.org

Website: http://www.letthemhear.org

Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson, AZ 85718-3208

USA

Tel: (520)529-2000

Fax: (520)529-5300

Tel: (800)572-1717

Email: mda@mdausa.org

Website: http://www.mda.org/

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

Potocki-Lupski Syndrome Outreach Foundation, Inc

2305 Kitty Hawk Dr

Plano, TX 75025

Tel: (214)435-8288

Email: info@potockilupskisyndrome.org

Website: http://www.ptlsfoundation.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 6/2/2015Copyright 2009 National Organization for Rare Disorders, Inc.

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